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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-69532924-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69532924&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69532924,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000549921.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null,
"transcript": "NM_001278356.2",
"protein_id": "NP_001265285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "ENST00000549921.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null,
"transcript": "ENST00000549921.6",
"protein_id": "ENSP00000450048.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "NM_001278356.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-121-29256G>A",
"hgvs_p": null,
"transcript": "ENST00000550389.5",
"protein_id": "ENSP00000447241.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null,
"transcript": "NM_001042555.3",
"protein_id": "NP_001036020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-190+868G>A",
"hgvs_p": null,
"transcript": "NM_001278351.2",
"protein_id": "NP_001265280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-247+868G>A",
"hgvs_p": null,
"transcript": "NM_001278353.2",
"protein_id": "NP_001265282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null,
"transcript": "NM_001278354.2",
"protein_id": "NP_001265283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null,
"transcript": "NM_001278355.2",
"protein_id": "NP_001265284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-121-29256G>A",
"hgvs_p": null,
"transcript": "NM_001278357.2",
"protein_id": "NP_001265286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-190+868G>A",
"hgvs_p": null,
"transcript": "NM_006654.5",
"protein_id": "NP_006645.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.-247+868G>A",
"hgvs_p": null,
"transcript": "ENST00000550937.5",
"protein_id": "ENSP00000447804.1",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "FRS2",
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"transcript": "ENST00000548154.5",
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},
{
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],
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-122+868G>A",
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"transcript": "ENST00000547219.5",
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},
{
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],
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-122+868G>A",
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"transcript": "ENST00000549092.5",
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},
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],
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},
{
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],
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-122+868G>A",
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},
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],
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-190+868G>A",
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"transcript": "ENST00000550169.5",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-292+868G>A",
"hgvs_p": null,
"transcript": "XM_017018717.2",
"protein_id": "XP_016874206.1",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-190+868G>A",
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},
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],
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},
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],
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},
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],
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"intron_rank": 3,
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"gene_symbol": "FRS2",
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"hgvs_c": "c.-122+868G>A",
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"transcript": "XM_047428120.1",
"protein_id": "XP_047284076.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FRS2",
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"hgvs_c": "c.-122+868G>A",
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"protein_id": "XP_047284077.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"exon_count": 9,
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"gene_symbol": "FRS2",
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"transcript": "XM_047428122.1",
"protein_id": "XP_047284078.1",
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"cds_start": -4,
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"cdna_start": null,
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}
],
"gene_symbol": "FRS2",
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"dbsnp": "rs472197",
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"hom_count_reference_population": 28972,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.599647,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 91138,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 28972,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.623,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000549921.6",
"gene_symbol": "FRS2",
"hgnc_id": 16971,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-122+868G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}